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rs116840776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840776(C;G)
Make rs116840776(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745627
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840776
ebirs116840776
HLIrs116840776
Exacrs116840776
Varsomers116840776
Maprs116840776
PheGenIrs116840776
hapmaprs116840776
1000 genomesrs116840776
hgdprs116840776
ensemblrs116840776
gopubmedrs116840776
geneviewrs116840776
scholarrs116840776
googlers116840776
pharmgkbrs116840776
gwascentralrs116840776
openSNPrs116840776
23andMers116840776
23andMe allrs116840776
SNP Nexus

SNPshotrs116840776
SNPdbers116840776
MSV3drs116840776
GWAS Ctlgrs116840776
GMAF0.001837
Max Magnitude0
OMIM601253
Desc
Variant0004
Relatedalso
ClinVar
Risk rs116840776(G;G)
Alt rs116840776(G;G)
Reference rs116840776(C;C)
Significance Other
Disease Limb-girdle muscular dystrophy not provided not specified Limb-girdle muscular dystrophy Long QT syndrome
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C not provided not specified Limb-girdle muscular dystrophy Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.8787313C>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008769.2, RCV000024381.1, RCV000150236.3, RCV000171752.1, RCV000205593.2,


[PMID 9536092] Caveolin-3 in muscular dystrophy.

[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?

[PMID 9536092] Caveolin-3 in muscular dystrophy.

[PMID 11251997] Mutations in the caveolin-3 gene: When are they pathogenic?

[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.